Orphanet: Molecular diagnosis in case of Unexplained Intellectual Deficit with Multiple Congenital Anomalies SNP array
x

Search for a diagnostic test

* (*) mandatory field

Molecular diagnosis in case of Unexplained Intellectual Deficit with Multiple Congenital Anomalies (SNP-array)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 31/07/2013
  • Sectie Genoomdiagnostiek / Genome Diagnostics Nijmegen
  • Afdeling Genetica
  • Radboudumc - Radboud universitair medisch centrum
  • Geert Grooteplein-Zuid 10
  • 6525 GA NIJMEGEN
  • NETHERLANDS
  • Director of laboratory : Dr H.G. [Helger] IJNTEMA
  • More information
  • Phone : +31 (0)24 361 3799
  • Additional Phone : -
  • Fax : +31 (0)24 361 6658
  • Website
  • Contact
Last update: July 2013

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Deletion / Duplication analysis
Array based techniques

List of diseases and genes

List of diseases tested (1)
Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Additional information

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.